Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs

The parental origin and mechanism of formation of polysomy X were studied in five cases (one case of 49,XXXXX; four cases of 49,XXXXY), using various X-linked restriction fragment length polymorphisms as genetic markers. Segregation and densitometric analyses on the polymorphic DNA fragments reveale...

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Bibliographic Details
Published in:Human genetics 1991-04, Vol.86 (6), p.541-544
Main Authors: Deng, H X, Abe, K, Kondo, I, Tsukahara, M, Inagaki, H, Hamada, I, Fukushima, Y, Niikawa, N
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adult
Blotting, Southern
Chromosome Aberrations
DNA
Female
Heterozygote
Humans
Infant
Karyotyping
Male
Meiosis
Nondisjunction, Genetic
Pedigree
Polymorphism, Restriction Fragment Length
restriction fragment length polymorphism
X Chromosome
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Summary:The parental origin and mechanism of formation of polysomy X were studied in five cases (one case of 49,XXXXX; four cases of 49,XXXXY), using various X-linked restriction fragment length polymorphisms as genetic markers. Segregation and densitometric analyses on the polymorphic DNA fragments revealed that, in all five cases, the additional X chromosomes are of maternal origin and the mechanism of formation is most probably a result of three non-disjunctions during maternal meiotic divisions: once at the first meiosis and simultaneously twice at the second meiosis. The identical origin and the identical mechanism of formation among the five cases are unlikely to be coincidental and suggest a common cause in the mothers of the five cases.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00201538